NM_001164277.2(SLC37A4):c.234G>A (p.Trp78Ter) AND Glucose-6-phosphate transport defect

Clinical significance:Likely pathogenic (Last evaluated: Feb 17, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001174813.1

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.234G>A (p.Trp78Ter)]

NM_001164277.2(SLC37A4):c.234G>A (p.Trp78Ter)

Gene:
SLC37A4:solute carrier family 37 member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_001164277.2(SLC37A4):c.234G>A (p.Trp78Ter)
HGVS:
  • NC_000011.10:g.119028341C>T
  • NG_013331.1:g.7566G>A
  • NM_001164277.1:c.234G>A
  • NM_001164277.2:c.234G>A
  • NM_001164278.2:c.234G>A
  • NM_001164279.2:c.15G>A
  • NM_001164280.2:c.234G>A
  • NM_001467.6:c.234G>A
  • NP_001157749.1:p.Trp78Ter
  • NP_001157749.1:p.Trp78Ter
  • NP_001157750.1:p.Trp78Ter
  • NP_001157751.1:p.Trp5Ter
  • NP_001157752.1:p.Trp78Ter
  • NP_001458.1:p.Trp78Ter
  • LRG_187t1:c.234G>A
  • LRG_187:g.7566G>A
  • LRG_187p1:p.Trp78Ter
  • NC_000011.9:g.118899051C>T
Protein change:
W5*
Links:
dbSNP: rs781857990
NCBI 1000 Genomes Browser:
rs781857990
Molecular consequence:
  • NM_001164277.1:c.234G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001164277.2:c.234G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001164278.2:c.234G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001164279.2:c.15G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001164280.2:c.234G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001467.6:c.234G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Glucose-6-phosphate transport defect (GSD1B)
Synonyms:
Glycogen storage disease type 1B; GSD Ib
Identifiers:
MedGen: C0268146; Orphanet: 364; Orphanet: 79259; OMIM: 232220

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001338164Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely pathogenic
(Feb 17, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

Veiga-da-Cunha M, Gerin I, Chen YT, Lee PJ, Leonard JV, Maire I, Wendel U, Vikkula M, Van Schaftingen E.

Eur J Hum Genet. 1999 Sep;7(6):717-23.

PubMed [citation]
PMID:
10482962

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001338164.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant summary: SLC37A4 c.234G>A (p.Trp78X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 236332 control chromosomes. c.234G>A has been reported in the literature in at least one individual affected with Glycogen Storage Disease Type Ib (Veiga-da-Cunha_1999). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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